Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517828
rs1057517828
SRD5A2
1 1.000 2 31580801 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs119481075
rs119481075
HSD17B3
4 0.882 0.240 9 96254906 missense variant C/T snv 8.8E-05 8.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs121434245
rs121434245
SRD5A2
3 0.882 0.200 2 31580737 missense variant A/T snv 0.010 1.000 1 2010 2010
dbSNP: rs149698797
rs149698797
HSD17B7
2 0.925 0.160 1 162792859 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs762681512
rs762681512
HSD17B13
2 0.925 0.160 4 87318405 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs913377707
rs913377707
POMC
1 1.000 2 25161145 frameshift variant T/- del 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs9332967
rs9332967
SRD5A2
7 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.020 1.000 2 2008 2009
dbSNP: rs934429785
rs934429785
POMC
1 1.000 2 25161145 missense variant T/C snv 0.010 1.000 1 2008 2008